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Perlman syndrome

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome
Class type of: syndrome, polymalformative genetic syndrome with increased risk of developing cancer, overgrowth syndrome Q7169165

Facts

10 properties
Instance of
rare disease, class of disease[6]
Subclass of
syndrome, polymalformative genetic syndrome with increased risk of developing cancer, overgrowth syndrome, developmental defect during embryogenesis
Age of onset
congenital onset, infantile onset, neonatal onset[11][12][13]
Genetic association
DIS3L2[10]
Has phenotype
tall stature, specific learning disability, anteverted nares, hyperinsulinemia, High, narrow palate, ptosis, Midline nevus flammeus, femoral hernia[15][16][17][18][19][20][21][22]
Health specialty
oncology[9]
NCI Thesaurus ID
C103144[8]
On focus list of Wikimedia project
WikiProject Medicine[14]
P14914
D02849[23]
Prevalence
+0.000001[7]
🏷️ Also known as
en Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism en nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor en Nephroblastomatosis fetal ascites macrosomia and wilms tumor en Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor en nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor en Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome en Perlman syndrome en PERLMAN SYNDROME en PERLMAN SYNDROME; PRLMNS en PRLMNS en renal hamartomas, nephroblastomatosis and fetal gigantism de Perlman-Syndrom fi Perlmanin oireyhtymä fi Perlmanin syndrooma fr Néphroblastomatose, ascite foetale , macrosomie et tumeur de Wilms fr syndrome de Perlman it sindrome di Perlman pl Zespół Perlmana pt Síndrome de Perlman
🔖 Identifiers · 14
Disease Ontology ID
DOID:0060476
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
3936
ICD-10-CM
Q87.3
ICD-11 ID (Foundation)
795682441
KEGG ID
H01412
MeSH descriptor ID
C536399
Microsoft Academic ID (discontinued)
2777452252
Mondo ID
MONDO_0009965
OMIM ID
267000
Orphanet ID
2849
SNOMED CT ID
722231005
Show all 14 identifiers +2
UMLS CUI
C0796113
UniProt disease ID
DI-03413

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Subclass of 2
disease, syndrome
Genetic association 1
DIS3L2
Health specialty 1
oncology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
← Genetic association 1
DIS3L2
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Summary

Perlman syndrome is a rare disease[1]. It is a type of syndrome[2], polymalformative genetic syndrome with increased risk of developing cancer[3], overgrowth syndrome[4], and developmental defect during embryogenesis[5].

Related Entities

disease oncology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Perlman syndrome. Retrieved November 5, 2026, from https://4ort.xyz/entity/perlman-syndrome
MLA “Perlman syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Nov. 2026, https://4ort.xyz/entity/perlman-syndrome.
BibTeX @misc{4ortxyz_perlman-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Perlman syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/perlman-syndrome}, note = {Accessed: 2026-11-05}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 16d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Prevalence → {'amount': '+0.000001'}
    Wikipedia languages → ['de', 'en', 'fi', 'it', 'pl', 'pt']
    Age of onset → congenital onset, infantile onset, neonatal onset
    Has phenotype → tall stature, specific learning disability, anteverted nares +5
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → syndrome, polymalformative genetic syndrome with increased risk of developing cancer, overgrowth syndrome +1
    Instance of → rare disease, class of disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
  3. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty → oncology
    Genetic association → DIS3L2
    Subclass of → —
    Instance of → rare disease, class of disease
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.